BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

384 related articles for article (PubMed ID: 30155880)

  • 1. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A
    Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
    Dutra RL; Pieri Pde C; Teixeira AC; Honjo RS; Bertola DR; Kim CA
    Clinics (Sao Paulo); 2011; 66(6):959-64. PubMed ID: 21808859
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
    Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
    Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
    Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
    Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
    von Beust G; Laccone FA; del Pilar Andrino M; Wessel A
    Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
    Dutra RL; Honjo RS; Kulikowski LD; Fonseca FM; Pieri PC; Jehee FS; Bertola DR; Kim CA
    BMC Res Notes; 2012 Jan; 5():13. PubMed ID: 22226172
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
    Milà M; Carrió A; Sánchez A; Gómez D; Jiménez D; Estivill X; Ballesta F
    Med Clin (Barc); 1999 Jun; 113(2):46-9. PubMed ID: 10425618
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
    Honjo RS; Dutra RL; Furusawa EA; Zanardo EA; Costa LS; Kulikowski LD; Bertola DR; Kim CA
    Biomed Res Int; 2015; 2015():903175. PubMed ID: 26090456
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
    Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR
    J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
    Wu D; Zhang M; Gao Y; Huo X; Xiao H; Zhang Q; Kang B; Wang X; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):475-478. PubMed ID: 32219841
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Detection of a Williams Beuren syndrome case by MLPA].
    Laurito S; Branham T; Herrero G; Marsa S; Garro F; Roqué M
    Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Williams-Beuren syndrome: diagnosis by polymorphic markers.
    Sbruzzi IC; Pereira AC; Vasconcelos B; Honjo RS; Krieger JE; Kim CA
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):209-14. PubMed ID: 20136526
    [TBL] [Abstract][Full Text] [Related]  

  • 13. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW; Wang JK; Wang TR
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
    Ramírez-Velazco A; Aguayo-Orozco TA; Figuera L; Rivera H; Jave-Suárez L; Aguilar-Lemarroy A; Torres-Reyes LA; Córdova-Fletes C; Barros-Núñez P; Delgadillo-Pérez S; Dávalos-Rodríguez IP; García-Ortiz JE; Domínguez MG
    J Genet; 2019 Jun; 98(2):. PubMed ID: 31204697
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
    Sharma P; Gupta N; Chowdhury MR; Phadke SR; Sapra S; Halder A; Ghosh M; Kabra M
    Cytogenet Genome Res; 2015; 146(3):187-94. PubMed ID: 26352091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
    Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
    Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
    Hou JW; Wang JK; Wang TR
    J Formos Med Assoc; 1997 Feb; 96(2):137-40. PubMed ID: 9071842
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.
    Li L; Huang L; Luo Y; Huang X; Lin S; Fang Q
    Mol Syndromol; 2016 Feb; 6(6):268-75. PubMed ID: 27022327
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C; Laccone F
    Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
    Lühmann JL; Schmidt G; Auber B; Bergmann AK; Brandau O; Louis A; Hentze S; Eisfeld K; Schlegelberger B; Klaes R; Steinemann D
    Am J Med Genet A; 2023 Jul; 191(7):1849-1857. PubMed ID: 37081310
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.